Article
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
American journal of human genetics - 1 Sept 1997
Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J
Abstract excerpt
Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation at the level of the lamina lucida within the cutaneous basement-membrane zone. Classic lethal JEB (Herlitz type [H-JEB]; OMIM 226700) is frequently associated with premature-termination-co...
Topics
- Alleles
- Cell Adhesion Molecules
- Chromosome Aberrations
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Epidermolysis Bullosa, Junctional
- Female
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Male
- Pedigree
- Point Mutation
- Kalinin